Diagnostic Approach to the Patients with Suspected Primary Immunodeficiency

被引：15

作者：

Tavakol, Marzieh ^{[1
,2
]}

Jamee, Mahnaz ^{[3
]}

Azizi, Gholamreza ^{[1
,4
]}

Sadri, Homa ^{[1
,2
]}

Bagheri, Yasser ^{[5
]}

Zaki-Dizaji, Majid ^{[6
]}

Mahdavi, Fatemeh Sadat ^{[3
]}

Jadidi-Niaragh, Farhad ^{[7
]}

Tajfirooz, Sanaz ^{[8
]}

Kamali, Ali N. ^{[9
]}

Aghamahdi, Fatemeh ^{[1
,10
]}

Noorian, Shahab ^{[10
]}

Kojidi, Habibeh Taghavi ^{[10
]}

Mosavian, Mehdi ^{[1
,11
]}

Matani, Rahman ^{[11
]}

Dolatshahi, Elahe ^{[12
]}

Porrostami, Kumars ^{[8
]}

Elahimehr, Nasrin ^{[8
]}

Fatemi-Abhari, Marzie ^{[8
]}

Sharifi, Laleh ^{[13
]}

Arjmand, Reza ^{[14
]}

Haghi, Sabahat ^{[15
]}

Zainaldain, Hamed ^{[4
]}

Yazdani, Reza ^{[4
]}

Shaghaghi, Mohammadreza ^{[16
]}

Abolhassani, Hassan ^{[17
]}

Aghamohammadi, Asghar ^{[4
]}

机构：

[1] Alborz Univ Med Sci, Noncommunicable Dis Res Ctr, Karaj, Iran

[2] Alborz Univ Med Sci, Sch Med, Dept Allergy & Clin Immunol, Karaj, Iran

[3] Alborz Univ Med Sci, Student Res Comm, Karaj, Iran

[4] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran

[5] Golestan Univ Med Sci, CRDU, Azar Hosp 5, Gorgan, Golestan, Iran

[6] Legal Med Org, Legal Med Res Ctr, Tehran, Iran

[7] Tabriz Univ Med Sci, Immunol Res Ctr, Tabriz, Iran

[8] Alborz Univ Med Sci, Sch Med, Dept Pediat, Karaj, Iran

[9] Alborz Univ Med Sci, CinnaGen Med Biotechnol Res Ctr, Karaj, Iran

[10] Alborz Univ Med Sci, Sch Med, Dept Pediat Endocrinol, Karaj, Iran

[11] Alborz Univ Med Sci, Sch Med, Dept Gastroenterol & Hepatol, Karaj, Iran

[12] Alborz Univ Med Sci, Sch Med, Dept Rheumatol, Karaj, Iran

[13] Univ Tehran Med Sci, Urooncol Res Ctr, Tehran, Iran

[14] Alborz Univ Med Sci, Sch Med, Dept Infect Dis, Karaj, Iran

[15] Alborz Univ Med Sci, Sch Med, Dept Hematol & Oncol, Karaj, Iran

[16] Johns Hopkins Univ Hosp, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD 21287 USA

[17] Karolinska Inst, Dept Lab Med, Div Clin Immunol, Karolinska Univ Hosp Huddinge, Stockholm, Sweden

来源：

ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS | 2020年 / 20卷 / 02期

关键词：

Primary immunodeficiency disorders; infection; antibody deficiency; combined immunodeficiency; autoimmunity; enteropathy; B-CELL; GENERATION; DEFICIENCY; DISEASES; IDENTIFICATION; MANAGEMENT; DISORDERS; MUTATIONS; AWARENESS; CHILDREN;

D O I：

10.2174/1871530319666190828125316

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background and Objective: Primary immunodeficiency diseases (PIDs) are a group of more than 350 disorders affecting distinct components of the innate and adaptive immune systems. In this review, the classic and advanced stepwise approach towards the diagnosis of PIDs are simplified and explained in detail. Results: Susceptibility to recurrent infections is the main hallmark of almost all PIDs. However, non-infectious complications attributable to immune dysregulation presenting with lymphoproliferative and/or autoimmune disorders are not uncommon. Moreover, PIDs could be associated with misleading presentations including allergic manifestations, enteropathies, and malignancies. Conclusion: Timely diagnosis is the most essential element in improving outcome and reducing the morbidity and mortality in PIDs. This wouldn't be possible unless the physicians keep the diagnosis of PID in mind and be sufficiently aware of the approach to these patients.

引用

页码：157 / 171

页数：15

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